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dbVar

Database of genomic structural variation

nsv6934551

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:43,400

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 859 SVs from 94 studies. See in: genome view

Submitted genomic11,352,301-11,395,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6934551	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	11,352,301	11,395,700
nsv6934551	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	11,505,235	11,548,634

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18356377	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18356377	Submitted genomic		NC_000012.12:g.113 52301_11395700del	GRCh38 (hg38)		NC_000012.12	Chr12	11,352,301	11,395,700
nssv18356377	Remapped	Perfect	NC_000012.11:g.115 05235_11548634del	GRCh37.p13	First Pass	NC_000012.11	Chr12	11,505,235	11,548,634

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18356377	0.098	21749	222782

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